On June 22, they took blood for another chimerism test (to test donor cells). Results will come back around July 20.
He is having a red blood transfusion today. His hemoglobin was 8.0.
They will remove the PICC line from his arm today.
He is refusing to take his meds. We've tried to mix them with various liquids but he is not taking them. Dr. Argawal said he will stay on Clarithomyocin (antibiotic for lung bacteria) for at least 6 months. It tastes terrible! I'm so proud he went two months taking it without much complaint. He is at his limit. I tell him they will put a tube in his nose. That threat worked a couple of times. He said he would rather have a tube in his nose. It feels like we are going backwards. He's having his PICC line removed, just to have an NG tube put in.
Here are his current meds:
Prograf (daily)
Prednisolone (every other day)
Folic Acid (daily)
Clarithomyocin (daily)
Septra (daily)
Zenopax (monthly)
IVIG (monthly)
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Spontaneous mutation (mom is not a carrier).
257 G>A (R86H) mild to no eczema (just a couple of dime sized spots) no infections no ear infections thrombocytopenia with platelets numbers 28-38K blood streaks in diaper petechiae on forehead. Clinical Score was a 1 or 2 never needed platelets or IVIG before transplant had a pretty good immune system.
My son had a mild common mutation of Wiskott Aldrich Syndrome (WAS). We decided, after 2 years of research, to not do the BMT but one month after our decision, he had a brain hemorrhage from jumping on a trampoline. His hemorrhage was treated with platelets but we were quickly encouraged to do the BMT. When he was two yrs old, he had a BMT with a 10/10 unrelated adult donor. We hope our research will help other families struggling with WAS. Feel free to email me: aimeemcnally@gmail.com
Coping with WAS
Organizations
- National Institute of Health - Contact: Dr. Fabio Candotti, expert in Wiskott-Aldrich Syndrome
- National Marrow Donor Program
- Cord Blood Donation - Free of Charge!
- CryoBank International - Free Cord Blood Collection Kit
- International Patients with Primary Immunodeficiencies
- For Pete's Sake Foundation
- GVHD Online Discussion Group
- Platelet Disorder Support - an interesting source, but WAS is not the same disorder as ITP
- National Transplant Assistance Fund
- Bone Marrow Donors Worldwide
- International Kids Fund - they will create a website for you and support donations
- Immune Deficiency Foundation Friends
- National Bone Marrow WEBCASTS
- Fertility Preservation Program of Pittsburgh
- Fertile Hope
- Wiskott-Aldrich Foundation
Followers
Medical Journal Articles
Autoimmunity in Wiskott-Aldrich Syndrome:Risk Factors, Clinical Features, and Outcome of 55 Patients (2003 Sophie Dupuis-Girod,et al)
Clinical course of patients with WASP gene mutations (2004 by Kohsuke Imai,et al)
High Incidence of Lymphomas in a subgroup of WAS patients (2003 British Journal of Haematology)
A Multiinstitutional Survey of the Wiskott-Aldrich Syndrome (1994 Kathleen Sullivan, et al)
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP):hotspots, effect on transcription, and translation and phenotype/genotype correlation (2004 Yinzhu Jin,et al)
Splenectomy and/or Bone Marrow Transplantation in the Management of the Wiskott-Aldrich Syndrome:Long-Term Follow-up of 62 Cases (1993 Craig Mullen,et al)
Splenectomy in the Management of the Thrombocytopenia of the Wiskott-Aldrich Syndrome (1988 Lum, et al)
Unique and Recurrent WAS Gene Mutations in Wiskott-Aldrich Syndrome and X-Linked Thrombocytopenia (1999 Lisa J. Thompson,et al)
WASP and the phenotypic range associated with deficiency (2005 by Notarangelo LD and Ochs HD)
WAS:another piece in the puzzle (2005 L.D. Notarangelo,et al)
WASP gene mutations and phenotype (2003 Kohsuke Imai,et al)
WAS/X-Linked Thrombocytopenia:WASP Gene Mutations, Protein Expression, and Phenotype (1997 Qili Zhu,et al)
Wiskott-Aldrich Syndrome in Argentina: 17 Unique,Including Nine Novel, Mutations (El-Hakeh, Jazmin, et al)
Understanding and Coping with WAS
Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation
Clinical course of patients with WASP gene mutations (2004 by Kohsuke Imai,et al)
High Incidence of Lymphomas in a subgroup of WAS patients (2003 British Journal of Haematology)
A Multiinstitutional Survey of the Wiskott-Aldrich Syndrome (1994 Kathleen Sullivan, et al)
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP):hotspots, effect on transcription, and translation and phenotype/genotype correlation (2004 Yinzhu Jin,et al)
Splenectomy and/or Bone Marrow Transplantation in the Management of the Wiskott-Aldrich Syndrome:Long-Term Follow-up of 62 Cases (1993 Craig Mullen,et al)
Splenectomy in the Management of the Thrombocytopenia of the Wiskott-Aldrich Syndrome (1988 Lum, et al)
Unique and Recurrent WAS Gene Mutations in Wiskott-Aldrich Syndrome and X-Linked Thrombocytopenia (1999 Lisa J. Thompson,et al)
WASP and the phenotypic range associated with deficiency (2005 by Notarangelo LD and Ochs HD)
WAS:another piece in the puzzle (2005 L.D. Notarangelo,et al)
WASP gene mutations and phenotype (2003 Kohsuke Imai,et al)
WAS/X-Linked Thrombocytopenia:WASP Gene Mutations, Protein Expression, and Phenotype (1997 Qili Zhu,et al)
Wiskott-Aldrich Syndrome in Argentina: 17 Unique,Including Nine Novel, Mutations (El-Hakeh, Jazmin, et al)
Understanding and Coping with WAS
Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation
Blood Tests
Normal Blood Count Range:
White Blood Cells (WBC): 5,000-10,000
Absolute Neutrophil Count (ANC): over 1500
Hemoglobin (HGB): 11.5-13.5
Hematocrit (HCT): 34-40%
Platelets: 160,000-500,000
Lab Tests Online How to Understand Them
Reference Intervals for Serum IgG, IgA, IgM, C3 and C4 by Age
T-Cell Mitogen (proliferation) Reference Ranges:
PHA: >93,000 cpm
ConA: >76,000 cpm
Poke Weed (PWM) >85,000
White Blood Cells (WBC): 5,000-10,000
Absolute Neutrophil Count (ANC): over 1500
Hemoglobin (HGB): 11.5-13.5
Hematocrit (HCT): 34-40%
Platelets: 160,000-500,000
Lab Tests Online How to Understand Them
Reference Intervals for Serum IgG, IgA, IgM, C3 and C4 by Age
T-Cell Mitogen (proliferation) Reference Ranges:
PHA: >93,000 cpm
ConA: >76,000 cpm
Poke Weed (PWM) >85,000
Medical Help
- T-cell Disorders
- Splenomegoly - This is enlarged spleen - There is info on splenectomy
- Intravenous Immunoglobulin after splenectomy
- Biology of Blood and Marrow Transplantation - excellent source of medical articles
- Date Duration Calculator (to find what BMT Day you are on
- Wiskott.org
- Gammaguard IVIG
- Cute Medical Bracelets
BMT and GVHD
- Bone Marrow Transplant
- Broviac Hickman Catheter
- Kidney Function Test
- Bone Marrow Transplant Long-Term Effects
- Quality of life and behavioral adjustment after pediatric bone marrow transplantation
- Chemotherapy Drugs, Effects, Diet
- Liver Damage After BMT
- Thymus Damage
- GVHD
- Treating GVHD
- Daclizumab (Zenapax) and Steroids Study
- Mouth Treatment
- Malnutrition and TPN Support
- Statlock Double Lumen Secure Device
- Clinical Staging and Grading
- Colostrum for Gut GVHD
- Similar Colostrum Study
- High Blood Pressure Medications
- How I treat chronic graft-vs-host disease
- How I treat refactory acute GVHD
- Cushing's Syndrome from Prolonged Steroid Use
- Engraftment Syndrome
- Acute pancreatitis due to tacrolimus in a case of allogeneic bone marrow transplantation
- Stools - Healthy and Not so Healthy
- National Bone Marrow WEBCASTS for parents dealing with children with GVHD
- Screening for Chronic GVHD (nice pictures!)
- Transplant Centers Who Have Done WAS BMTS
- Endocrinological late complications after hematopoietic SCT in children (thyroid problems)
- GVHD National Symposium
Databases
Definitions
Disclaimer
We are not Doctors, nor do we have any medical training. Any views or information posted on this blog is either our untrained speculation or personal opinion. The content of this web log is intended for public consumption, but it does not necessarily attempt to report medical information with precision or accuracy.
Books and Publications
WAS Families at carepages.com
- ADYniguez - Gene Therapy
- ChristopherLiscano - Splenectomy
- CJLaPenta - Cordblood BMT Healthy
- JaceLecours - BMT Healthy
- JacobSchroeder - Sibling donor BMT Healthy
- MackiePryor - Gene Therapy
- masonfernando - BMT Healthy but some complications
- RandsJourney - Sibling donor BMT Healthy
- sammyveitch - BMT Healthy
- SeanCampbell - Cordblood BMT - Healthy
- TaylorRyanFisher - Cordblood BMT Healthy
WAS Families at caringbridge.com
WAS Families at Other Places
- Austin Clover in the UK
- Ayden - BMT Healthy
- Baden K. - BMT Healthy + article
- Baden K. - BMT Healthy + Big Heart
- Declan - BMT Healthy
- Hayden Blatter - BMT Healthy
- Hunter - BMT Healthy
- Josiah - BMT Healthy
- Kyler - happlily living
- Mason B. - BMT mostly healthy
- Max 'der Starke'
- Oliver in England - BMT Healthy
- P.J. Lyle - BMT Healthy
- Sean - Cordblood BMT Healthy
- Sebastian De La Puente - in Spanish
- Sebastian's Page - in English
- Viggo - Sweden - BMT Healthy
- William from England - BMT Healthy
- Zac Rugless from NSW Australia - BMT w/ complications
David"s Mutation
WAS Clinical Scores
Jin et al (2004) employ a numerical grading of severity:
0.5: intermittent thrombopenia
1.0: thrombopenia and small platelets
2.0: thrombopenia and normally responsive eczema or occasional upper respiratory tract infections
2.5: thrombopenia and therapy-responsive but severe eczema or airway infections requiring antibiotics
3.0: both eczema and airway infections requiring antibiotics
4.0: eczema contiuously requiring therapy and/or severe/life-thtreatening infections
5.0: autoimmune disease or malignancy in an XLT/WAS patient
0.5: intermittent thrombopenia
1.0: thrombopenia and small platelets
2.0: thrombopenia and normally responsive eczema or occasional upper respiratory tract infections
2.5: thrombopenia and therapy-responsive but severe eczema or airway infections requiring antibiotics
3.0: both eczema and airway infections requiring antibiotics
4.0: eczema contiuously requiring therapy and/or severe/life-thtreatening infections
5.0: autoimmune disease or malignancy in an XLT/WAS patient
David's Symptoms During and After Transplant
- Ate and breastfed through transplant
- Bad Skin Graft vs. Host Disease
- Cataracts from chronic steroid use
- Differnt donor blood type = numerous transfusions
- Donor blood type took over so no more transfusions
- Hashimoto's Thyroiditis
- High hemoglobin or called polycythemia
- Intestinal problems due to steroids = antacid
- Low blood counts = transfusions
- Low Magnesium and Potassium = liquid calcium supplement
- Low self-esteem and emotional sensitivities
- Needs to drink lots of water
- No dry eyes, or GVH in gut or liver
- No mouth sores
- No TPN
- Papillidema - optic nerve swelling
- Severe Spinal Headaches from Lumbar Punctures
- Stunt of growth because of steroids
- Very high blood pressure because of medications
2 comments:
Dear Aimee,
You are an amazing mom and I know how much you must hate the idea of a nose tube. Putting one in is not a step backwards, it just makes life a little easier. I have had many discussions with JAcob about removing his, but he has told me that he does not like the meds and he would rather have the nose tube. Although I hate how it looks, I like not having to fight with JAcob twice a day.
Amy
Aimee,
Just checking in. No more PICC line! Wow! That's great!
Why can't they make meds that taste good? How would they like to take those yucky medicines for as long as little David has?! They should make all drug manufacturers have to try their own drugs!! I pray you can find a way for him to take them easier. Ethan just has to have cherry syrup added to EVERYTHING, even grape flavored meds! Yum! Hopefully you can find a magic recipe for David, or he decides he doesn't want that nose tube after all!
Hang in there, Super Mom!!
Blessings,
Andrea
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